BJH - volume 16, issue 2, april 2025
L. Dassy MD, D. Aktan MD, A. Jaspers MD, PhD, S. Shalchian-Tehran MD, V. Delvaux MD, PhD, F. Maraite MD, F. Pitance MD, J-M. Minon MD, PhD, O. Kaye MD, PhD
ADAMTS13, an important enzyme in the regulation of von Willebrand factor, may be deficient, leading to a thrombotic thrombocytopenic purpura, a subtype of thrombotic microangiopathy causing thrombocytopenia, organ failure and haemolytic anaemia. This condition may also be associated with antiphospholipid syndrome and/or systemic lupus erythematosus. We report a case of ischaemic neurological lesions due to an inaugural systemic lupus erythematosus and antiphospholipid syndrome, with the demonstration of a decreased ADAMTS13 activity without biological signs of thrombotic microangiopathy, associated with a possible COVID-19 trigger.
(BELG J HEMATOL 2025;16(2):70–7)
Read moreBJH - volume 15, issue 8, december 2024
E. De Bondt MD, J. Brijs MD, T. Tousseyn MD, PhD, P. Vanbrabant MD, H. Schoemans MD, PhD, L. Henckaerts MD, PhD
We report the case of a 32-year-old female patient who was sent to the emergency department because of nocturnal fever, night sweats, pancytopenia and an elevated CRP. Clinical examination showed a pale patient with a splenomegaly of 17.6 cm. Standard blood tests for infectious diseases remained negative. Travel history revealed a trip to Spain seven months ago. Leishmania serology on blood and polymerase chain reaction (PCR) on bone marrow were found positive. The diagnosis of visceral leishmaniasis was made and the patient was treated with intravenous amphotericin B, with a rapid clinical and biochemical recovery. Leishmaniasis is a (sub)tropical, vector-borne disease caused by intracellular protozoan parasites, spread by sand-flies. Visceral leishmaniasis is the most severe form and presents in a nonspecific way. This case illustrates the importance of a good work-up of pancytopenia, a relatively frequent medical condition with multiple causes. The possibility of visceral leishmaniasis should not be forgotten, especially in case of a suggestive travel history.
(BELG J HEMATOL 2024;15(8):329–32)
Read moreBJH - volume 15, issue 8, december 2024
O. Mortelé PhD, K.L. Wu MD, PhD, K. Verboom PhD, P. De schouwer MD, E. Heylen PhD
This case report outlines the diagnosis and management of T-cell prolymphocytic leukaemia (T-PLL) in a 78-year-old asymptomatic woman. The leukaemia rapidly progressed within five months, leading to a hyperleukocytosis of 305 × 109/L and thrombopenia suggestive for bone marrow involvement. Diagnostic assessments included peripheral blood analysis, immunophenotyping, cytogenetics and molecular analysis according to the unified diagnostic criteria of the T-PLL International Study Group (T-PLL-ISG). Bendamustine treatment was initiated resulting in a significant decrease in leucocytosis. In the past nine months, the patient has received six cycles of bendamustine and has remained asymptomatic to date.
(BELG J HEMATOL 2024;15(8):325–8)
Read moreBJH - volume 15, issue 7, november 2024
S. Marchetta MD, C. Douin MD, T. Couvreur MD, J. Djekic MD, B. Bastens MD, G. Houbiers MD, B. Massart MD, R. Roufosse MD, L. Longrée , C. Focan MD, PhD
The authors report the case of a patient suffering from cardiac amyloidosis with hepatic involvement. A prolonged remission was obtained under chemoimmunotherapy with CyBorD association (cyclophosphamide, bortezomib, and dexamethasone) and daratumumab. A literature survey is performed and presented.
(BELG J HEMATOL 2024;15(7):281–5)
Read moreBJH - volume 15, issue 6, october 2024
T. Van Weyenbergh MD, V. Maertens MD, M. Lins MD
Interplay between drug-induced agranulocytosis (DIA) and autoimmune disease is widely suggested in literature. However, cases of DIA in mixed connective tissue disease (MCTD) are yet to be reported. A 49-year-old woman taking terbinafine presented with acute fever, parotitis and pericarditis. Laboratory analysis revealed severe inflammation (CRP 434 mg/L) with agranulocytosis, rapidly recovering after terbinafine discontinuation. Furthermore, arthralgias, Raynaud’s phenomenon, scleroderma and anti-U1-RNP positivity confirmed underlying MCTD. This is the first reported case of DIA in an MCTD patient. The slim chance of this co-occurrence and the atypical presentation raise the tantalising question of whether an interaction exists.
(BELG J HEMATOL 2024;15(6):246-8)
Read moreBJH - volume 15, issue 6, october 2024
E. De Backer MD, K. Deiteren MD, A. De Vooght MD, S. Libbrecht MD, S. De Bruijn MD
Myeloproliferative neoplasms (MPN) consist of a heterogeneous group of chronic hematological disorders currently classified according to their clinical, phenotypical, and genomic features. Co-existence of JAK2 V617F mutation and BCR::ABL1 fusion gene have been described earlier. However, the concomitant diagnosis of chronic myeloid leukaemia (CML) and myelodysplastic/myeloproliferative neoplasm overlap syndrome with SF3B1 mutation and thrombocytosis (MDS/MPN-SF3B1-T) has not been reported before. We present a case of a 71-year-old female, known with a previous diagnosis of JAK2 V617F mutated MPN and subsequent diagnosis of BCR::ABL1-positive CML and MDS/MPN-SF3B1-T, developing fulminant thrombocytosis (5.481×10^9/L), necessitating thrombocytapheresis and making this case unique.
(BELG J HEMATOL 2024;15(6):238–45)
Read moreBJH - volume 15, issue 4, june 2024
N. Catarin MD, C. Lété PhD, R. Fernandez Carazo PhD, B. Koopmansch PhD, S. Franke PhD, W. Llorente , A. Guadagni , V. Bours MD, PhD, P. Beckers MD, M. Jamar MD, PhD, F. Lambert MD, C. Menten PhD
Here, we report the diagnostic work-up of a thirty-three-year-old woman presenting with 77% bone marrow myeloid blasts. Conventional cytogenetic did not show any recurrent abnormality but four mutations were found in three genes: FLT3, CEBPA and IDH1. This AML was considered “AML with CEBPA mutation” (2022 WHO classification) with an intermediate prognosis according to the 2022 ELN recommendations. On top of that, the newly described Optical Genome Mapping (OGM) technology was used to search for a potential structural variant. Using this assay, we detected a NUP98::NSD1 fusion in the bone marrow cells. This infrequent but recurrent translocation was subsequently confirmed by specific FISH and RNA-sequencing (Archer®). It is associated with high induction failure and poor survival in AML. In summary, the OGM approach can efficiently detect cryptic chromosomal aberrations in AML, which could change the prognosis and guide the patient’s treatment.
(BELG J HEMATOL 2024;15(4):172–5)
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